Document Detail

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
MedLine Citation:
PMID:  17214723     Owner:  NLM     Status:  MEDLINE    
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare inherited condition that includes characteristic eyelid malformations and sometimes reduced fertility in females. Genetic studies have implicated mutations in the forkhead transcription factor FOXL2 as responsible for BPES. We report a female and her father with BPES type I, who presented the 1092-1108dup17 mutation in the FOXL2 gene. Molecular studies and the typical clinical features of BPES should allow the dermatologist to reach an early diagnosis and permit the treatment of eyelid alterations and the investigation of infertility.
Alvaro Leon-Mateos; Manuel Ginarte; Clara Ruiz-Ponte; Angel Carracedo; Jaime Toribio
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  International journal of dermatology     Volume:  46     ISSN:  0011-9059     ISO Abbreviation:  Int. J. Dermatol.     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2007-01-11     Completed Date:  2007-04-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0243704     Medline TA:  Int J Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  61-3     Citation Subset:  IM    
Department of Dermatology, POVISA, Vigo, Spain.
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MeSH Terms
Blepharophimosis / genetics*,  surgery
Blepharoptosis / genetics*,  surgery
Forkhead Transcription Factors / genetics*
Reg. No./Substance:
0/FOXL2 protein, human; 0/Forkhead Transcription Factors

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